Isolated hyperCKemia

{{Infobox medical condition

|name = Isolated hyperCKemia

|synonyms = Asymptomatic hyperCKemia

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|specialty = Medical genetics

|symptoms = None other than high levels of creatine kinase in the blood

|complications = None

|onset = Birth

|duration = Life-long

|types =

|causes = Genetic mutation

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|diagnosis = Genetic testing

|differential =

|prevention = none

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|medication = None required

|prognosis = Good

|frequency = Unknown, since almost all cases are asymptomatic

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Isolated hyperCKemia is a benign{{Cite journal |last1=Klinis |first1=Spyridon |last2=Symeonidis |first2=Athanasios |last3=Karanasios |first3=Dimitrios |last4=Symvoulakis |first4=Emmanouil K. |date=2017-01-01 |title=Asymptomatic hyperCKemia during a two‑year monitoring period: A case report and literature overview |journal=Biomedical Reports |volume=6 |issue=1 |pages=79–82 |doi=10.3892/br.2016.822 |issn=2049-9434 |pmc=5244789 |pmid=28123712}} genetic disorder which is characterized by high levels of creatine kinase (an enzyme) in the blood, usually, levels of CK in the blood of people with this disorder are 3 to 10 times higher than average. Unlike what most people experience when their CK blood levels are high,{{Cite web |title=HyperCKemia |url=https://practicalneurology.com/articles/2019-aug-july/hyperckemia |access-date=2022-05-21 |website=Practical Neurology |language=en}} people with this disorder don't experience any symptoms, less commonly, people with isolated hyperCKemia have microscopic muscle cell abnormalities. This condition is a type of caveolinopathy since it is associated with the CAV3 gene, in chromosome 3.{{Cite web |title=Isolated hyperCKemia: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/isolated-hyperckemia/ |access-date=2022-05-21 |website=medlineplus.gov |language=en}}{{Cite web |title=VSource |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599}} Although it is asymptomatic, people with this variant of hyperCKemia have an elevated risk of suffering from malignant hyperthermia.{{Cite journal |last1=Rubegni |first1=Anna |last2=Malandrini |first2=Alessandro |last3=Dosi |first3=Claudia |last4=Astrea |first4=Guja |last5=Baldacci |first5=Jacopo |last6=Battisti |first6=Carla |last7=Bertocci |first7=Giulia |last8=Donati |first8=M. Alice |last9=Dotti |first9=M. Teresa |last10=Federico |first10=Antonio |last11=Giannini |first11=Fabio |date=2019-08-16 |title=Next-generation sequencing approach to hyperCKemia |journal=Neurology: Genetics |volume=5 |issue=5 |pages=e352 |doi=10.1212/NXG.0000000000000352 |issn=2376-7839 |pmc=6705647 |pmid=31517061}}